List of variants in gene PKP2 reported as pathogenic by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)	rs372827156	0.00005
NM_001005242.3(PKP2):c.2357+1G>A	rs111517471	0.00004
NM_001005242.3(PKP2):c.2014-1G>C	rs193922674	0.00003
NM_001005242.3(PKP2):c.1171-2A>G	rs794729133	0.00001
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter)	rs397517012	0.00001
NM_001005242.3(PKP2):c.1379-1_1556+1del	rs2137829787
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs)	rs397516997
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs)	rs397517021
NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg)	rs794729098
NM_001005242.3(PKP2):c.2377del (p.Ser793fs)	rs727504432
NM_001005242.3(PKP2):c.253_256del (p.Glu85fs)	rs786204388
NM_001005242.3(PKP2):c.775G>T (p.Glu259Ter)	rs1425855043

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